Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
1.2.1.3
Oxidoreductases;
Acting on the aldehyde or oxo group of donors;
With NAD+ or NADP+ as acceptor;
aldehyde dehydrogenase (NAD+)
1.2.1.31
Oxidoreductases;
Acting on the aldehyde or oxo group of donors;
With NAD+ or NADP+ as acceptor;
L-aminoadipate-semialdehyde dehydrogenase
1.2.1.8
Oxidoreductases;
Acting on the aldehyde or oxo group of donors;
With NAD+ or NADP+ as acceptor;
betaine-aldehyde dehydrogenase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 2J6L | 1.3 | Structure of aminoadipate-semialdehyde dehydrogenase |
| 4X0T | 2.4 | Structure ALDH7A1 inactivated by 4-diethylaminobenzaldehyde and complexed with NAD+ |
| 4X0U | 1.95 | Structure ALDH7A1 inactivated by 4-diethylaminobenzaldehyde |
| 4ZUK | 2.001 | Structure ALDH7A1 complexed with NAD+ |
| 4ZUL | 1.76 | Structure ALDH7A1 complexed with alpha-aminoadipate |
| 4ZVW | 2.4 | Structure of apo human ALDH7A1 in space group C2 |
| 4ZVX | 1.9 | Structure of apo human ALDH7A1 in space group P4212 |
| 4ZVY | 1.9 | Structure of human ALDH7A1 complexed with NAD+ in space group P4212 |
| 6O4B | 1.85 | Structure of ALDH7A1 mutant W175G complexed with NAD |
| 6O4C | 1.7 | Structure of ALDH7A1 mutant W175A complexed with NAD |
| 6O4D | 1.88 | Structure of ALDH7A1 mutant W175A complexed with L-pipecolic acid |
| 6O4E | 1.75 | Structure of ALDH7A1 mutant N167S complexed with NAD |
| 6O4F | 1.9 | Structure of ALDH7A1 mutant N167S complexed with alpha-aminoadipate |
| 6O4G | 2.05 | Structure of ALDH7A1 mutant P169S complexed with alpha-aminoadipate |
| 6O4H | 2.05 | Structure of ALDH7A1 mutant A171V complexed with NAD |
| 6O4I | 1.75 | Structure of ALDH7A1 mutant E399D complexed with alpha-aminoadipate |
| 6O4K | 2.06 | Structure of ALDH7A1 mutant E399Q complexed with NAD |
| 6O4L | 1.85 | Structure of ALDH7A1 mutant E399D complexed with NAD |
| 6U2X | 2.15 | Structure of ALDH7A1 mutant E399G complexed with NAD |
| 6V0Z | 2.02 | Structure of ALDH7A1 mutant R441C complexed with NAD |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006081 | cellular aldehyde metabolic process |
| Biological Process | GO:0042426 | choline catabolic process |
| Biological Process | GO:0019285 | glycine betaine biosynthetic process from choline |
| Biological Process | GO:0007605 | sensory perception of sound |
| Molecular Function | GO:0004043 | L-aminoadipate-semialdehyde dehydrogenase activity |
| Molecular Function | GO:0004029 | aldehyde dehydrogenase (NAD+) activity |
| Molecular Function | GO:0008802 | betaine-aldehyde dehydrogenase activity |
| Molecular Function | GO:0043878 | glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity |
| Molecular Function | GO:0042802 | identical protein binding |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0005759 | mitochondrial matrix |
| Cellular Component | GO:0005739 | mitochondrion |
| Cellular Component | GO:0005634 | nucleus |
| InterPro
|
InterPro name |
|---|---|
| IPR015590 | Aldehyde dehydrogenase domain |
| IPR016161 | Aldehyde/histidinol dehydrogenase |
| IPR016162 | Aldehyde dehydrogenase, N-terminal |
| IPR016163 | Aldehyde dehydrogenase, C-terminal |
| IPR029510 | Aldehyde dehydrogenase, glutamic acid active site |
| IPR044638 | Aldehyde dehydrogenase family 7 member A1-like |
| Pfam
|
Pfam name |
|---|---|
| PF00171 | Aldehyde dehydrogenase family |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-6798163 | Choline catabolism | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-71064 | Lysine catabolism | Leaf | R-HSA-1430728 | Metabolism |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cytoplasm, cytosol | ECO:0000269 | PubMed:20207735 |
| Mitochondrion | ECO:0000269 | PubMed:20207735 |
| Nucleus | ECO:0000269 | PubMed:20207735 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000238 | Hydrocephalus |
| HP:0000273 | Facial grimacing |
| HP:0000486 | Strabismus |
| HP:0000496 | Abnormality of eye movement |
| HP:0000711 | Restlessness |
| HP:0000737 | Irritability |
| HP:0000750 | Delayed speech and language development |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001557 | Prenatal movement abnormality |
| HP:0001943 | Hypoglycemia |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002119 | Ventriculomegaly |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002133 | Status epilepticus |
| HP:0002188 | Delayed CNS myelination |
| HP:0002280 | Enlarged cisterna magna |
| HP:0002521 | Hypsarrhythmia |
| HP:0002643 | Neonatal respiratory distress |
| HP:0003128 | Lactic acidosis |
| HP:0003623 | Neonatal onset |
| HP:0007359 | Focal-onset seizure |
| HP:0010819 | Atonic seizure |
| HP:0010841 | Multifocal epileptiform discharges |
| HP:0010845 | EEG with generalized slow activity |
| HP:0010851 | EEG with burst suppression |
| HP:0011097 | Epileptic spasm |
| HP:0011152 | Early onset absence seizures |
| HP:0011166 | Focal myoclonic seizure |
| HP:0011198 | EEG with generalized epileptiform discharges |
| HP:0011199 | EEG with generalized sharp slow waves |
| HP:0011968 | Feeding difficulties |
| HP:0012420 | Meconium stained amniotic fluid |
| HP:0012444 | Brain atrophy |
| HP:0012704 | Widened subarachnoid space |
| HP:0012758 | Neurodevelopmental delay |
| HP:0012768 | Neonatal asphyxia |
| HP:0020217 | Focal aware motor seizure |
| HP:0020221 | Clonic seizure |
| HP:0025116 | Fetal distress |
| HP:0030917 | Low APGAR score |
| HP:0034365 | Elevated circulating alpha-aminoadipic semialdehyde concentration |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| pyridoxine-dependent epilepsy caused by aldh7a1 mutant | MONDO:0020741 | G40 | chapter6, Diseases of the nervous system | OMIM:266100 |